Canonical Allele Identifier: CA351640640

Gene: ITPR1

Linked Data

• dbSNP Id: rs1441150494
• gnomAD v2: 3-4829728-C-T
• MyVariant Identifiers: chr3:g.4829728C>T (hg19) ; chr3:g.4788044C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.4788044C>T , CM000665.2:g.4788044C>T	GRCh38
NC_000003.11:g.4829728C>T , CM000665.1:g.4829728C>T	GRCh37
NC_000003.10:g.4804728C>T	NCBI36
NG_016144.1:g.299697C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000302640.13:c.6724C>T	ENSP00000306253.9:n.6724C>T
ENST00000354582.12:c.6689C>T	ENSP00000346595.8:p.Thr2230Ile
ENST00000443694.5:c.6668C>T	ENSP00000401671.2:p.Thr2223Ile
ENST00000354582.11:c.6689C>T	ENSP00000346595.8:p.Thr2230Ile
ENST00000357086.10:c.6569C>T	ENSP00000349597.4:p.Thr2190Ile
ENST00000443694.4:c.6668C>T	ENSP00000401671.2:p.Thr2223Ile
ENST00000456211.8:c.6524C>T	ENSP00000397885.2:p.Thr2175Ile
ENST00000481415.2:n.605C>T
ENST00000544951.6:c.997-18059C>T	ENSP00000440564.1:n.997-18059C>T
ENST00000647708.1:c.2612C>T
ENST00000647717.1:n.4217C>T
ENST00000648016.1:c.3048C>T
ENST00000648038.1:c.4475C>T	ENSP00000497872.1:p.Thr1492Ile
ENST00000648212.1:c.3621C>T
ENST00000648266.1:c.6686C>T	ENSP00000498014.1:p.Thr2229Ile
ENST00000648309.1:c.6641C>T	ENSP00000497026.1:p.Thr2214Ile
ENST00000648390.1:c.447-58095C>T
ENST00000648431.1:c.4015C>T
ENST00000648510.1:n.547C>T
ENST00000649015.2:c.6713C>T MANE Select	ENSP00000497605.1:p.Thr2238Ile
ENST00000649144.1:n.1761C>T
ENST00000649272.1:n.275C>T
ENST00000649694.1:n.4198C>T
ENST00000650294.1:c.6671C>T	ENSP00000498056.1:p.Thr2224Ile
ENST00000302640.12:c.6668C>T	ENSP00000306253.8:p.Thr2223Ile
ENST00000354582.10:c.6713C>T	ENSP00000346595.7:p.Thr2238Ile
ENST00000357086.9:c.6569C>T	ENSP00000349597.4:p.Thr2190Ile
ENST00000443694.3:c.6668C>T	ENSP00000401671.2:p.Thr2223Ile
ENST00000456211.7:c.6524C>T	ENSP00000397885.2:p.Thr2175Ile
ENST00000544951.5:c.997-18059C>T	ENSP00000440564.1:n.997-18059C>T
NM_001099952.2:c.6569C>T	NP_001093422.2:p.Thr2190Ile
NM_001168272.1:c.6668C>T	NP_001161744.1:p.Thr2223Ile
NM_002222.5:c.6524C>T	NP_002213.5:p.Thr2175Ile
XM_005265109.2:c.6644C>T	XP_005265166.1:p.Thr2215Ile
XM_005265110.2:c.6596C>T	XP_005265167.1:p.Thr2199Ile
XM_006713131.2:c.6647C>T	XP_006713194.1:p.Thr2216Ile
XM_011533681.1:c.6716C>T	XP_011531983.1:p.Thr2239Ile
XM_011533682.1:c.6716C>T	XP_011531984.1:p.Thr2239Ile
XM_011533683.1:c.6713C>T	XP_011531985.1:p.Thr2238Ile
XM_011533684.1:c.6689C>T	XP_011531986.1:p.Thr2230Ile
XM_011533685.1:c.6683C>T	XP_011531987.1:p.Thr2228Ile
XM_011533686.1:c.6680C>T	XP_011531988.1:p.Thr2227Ile
XM_011533687.1:c.6671C>T	XP_011531989.1:p.Thr2224Ile
XM_011533688.1:c.6644C>T	XP_011531990.1:p.Thr2215Ile
XM_011533689.1:c.6605C>T	XP_011531991.1:p.Thr2202Ile
XM_011533690.1:c.6716C>T	XP_011531992.1:p.Thr2239Ile
XM_005265109.3:c.6644C>T	XP_005265166.1:p.Thr2215Ile
XM_005265110.3:c.6596C>T	XP_005265167.1:p.Thr2199Ile
XM_006713131.3:c.6647C>T	XP_006713194.1:p.Thr2216Ile
XM_011533682.3:c.6716C>T	XP_011531984.1:p.Thr2239Ile
XM_011533683.3:c.6713C>T	XP_011531985.1:p.Thr2238Ile
XM_011533684.2:c.6689C>T	XP_011531986.1:p.Thr2230Ile
XM_011533685.2:c.6683C>T	XP_011531987.1:p.Thr2228Ile
XM_011533686.2:c.6680C>T	XP_011531988.1:p.Thr2227Ile
XM_011533687.2:c.6671C>T	XP_011531989.1:p.Thr2224Ile
XM_011533688.2:c.6644C>T	XP_011531990.1:p.Thr2215Ile
XM_011533690.2:c.6716C>T	XP_011531992.1:p.Thr2239Ile
XM_017006357.2:c.6713C>T	XP_016861846.1:p.Thr2238Ile
NM_001099952.3:c.6569C>T	NP_001093422.2:p.Thr2190Ile
NM_002222.6:c.6524C>T	NP_002213.5:p.Thr2175Ile
NM_001099952.4:c.6569C>T	NP_001093422.2:p.Thr2190Ile
NM_001168272.2:c.6668C>T	NP_001161744.1:p.Thr2223Ile
NM_001378452.1:c.6713C>T MANE Select	NP_001365381.1:p.Thr2238Ile
NM_002222.7:c.6524C>T	NP_002213.5:p.Thr2175Ile